ClinVar Miner

Variants from Tgen's Center For Rare Childhood Disorders,Translational Genomics Research Institute (TGEN) with conflicting interpretations

Location: United States — Primary collection method: clinical testing
Minimum review status of the submission from Tgen's Center For Rare Childhood Disorders,Translational Genomics Research Institute (TGEN): Collection method of the submission from Tgen's Center For Rare Childhood Disorders,Translational Genomics Research Institute (TGEN):
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
2 2 0 2 1 0 2 5

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All submitters
Tgen's Center For Rare Childhood Disorders,Translational Genomics Research Institute (TGEN) pathogenic likely pathogenic uncertain significance
pathogenic 0 2 1
benign 1 0 1

Submitter to submitter summary #

Total submitters: 3
Download table as spreadsheet
Submitter Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
GeneDx 0 3 0 1 1 0 1 3
Illumina Clinical Services Laboratory,Illumina 0 0 0 0 0 0 1 1
CeGaT Praxis fuer Humangenetik Tuebingen 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 5
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HGVS dbSNP
NM_001202468.1(ZMYND11):c.1262G>A (p.Ser421Asn) rs869320713
NM_004782.3(SNAP29):c.354dupG (p.Leu119Alafs) rs751575036
NM_004992.3(MECP2):c.1101_1106delCCACCA (p.His371_His372del) rs61752381
NM_004992.3(MECP2):c.1129_1198del70 (p.Lys377Profs) rs1557135353
NM_139242.3(MTFMT):c.626C>T (p.Ser209Leu) rs201431517

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